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G6PD and neurodevelopmental disorder are reported together in 2 articles.
Gene
G6PD
- HGNC
- HGNC:4057
107articles
107mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
glucose-6-phosphate dehydrogenase deficiency 78sickle cell disease 12thalassemia 9sickle cell anemia 8malaria 7diabetes mellitus 5COVID-19 3autism spectrum disorder 3
Reported variants (articles · ClinVar status)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Role of glucose 6-phosphate dehydrogenase (G6PD) deficiency and its association to Autism Spectrum Disorders.
PMID 34087423 | DOI 10.1016/j.bbadis.2021.166185 · Biochimica et biophysica acta. Molecular basis of disease · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “Role of glucose 6-phosphate dehydrogenase (G6PD) deficiency and its association to Autism Spectrum Disorders.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism Spectrum Disorder (ASD) is a common group of neurodevelopmental disorders which causes significant alterations in social and communication skills along with repetitive behavior and limited interests.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | autism spectrum disorder | “Role of glucose 6-phosphate dehydrogenase (G6PD) deficiency and its association to Autism Spectrum Disorders.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Several reports suggested that G6PD deficiency impedes cellular detoxification of reactive oxygen species (ROS), which may result in neuronal damage and neuroinflammation.” | 0.93 | phenotype_alias_lexicon_v2 |
G6PD deficiency in autism: a case-series from Saudi Arabia.
PMID 18810308 | DOI 10.1007/s00787-008-0721-9 · European child & adolescent psychiatry · 2009 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “G6PD deficiency in autism: a case-series from Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “Autism is a neurodevelopmental disorder characterized by a pattern of social and communication deficits.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “G6PD deficiency in autism: a case-series from Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | autism spectrum disorder | “G6PD deficiency in autism: a case-series from Saudi Arabia.” | 0.93 | phenotype_alias_lexicon_v2 |